28 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Syndrome Signs/Symptoms ... delayed puberty -> Infertility ... PraderWilli #Syndrome #genetics ... pathophysiology #peds ... #pediatrics
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
Pediatric Discitis - Inflammation of intervertebral disc 
Etiology 
 • Bacterial or viral 
Clinical 
 •
Pediatric Discitis ... Bacterial or viral Clinical ... • Radicular symptoms ... Diagnosis ... #Peds #Diagnosis
Signs and Symptoms of Respiratory Distress Through the Years. 

#signs #symptoms #diagnosis #differential #neonatal #pediatrics #adult
Signs and Symptoms ... #signs #symptoms ... #diagnosis #differential ... #neonatal #pediatrics ... #adult #peds #pulmonary
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis ... #Algorithm #Differential ... #Neonatology #Peds ... #Pediatrics #Table
Causes of Acute Pediatric Cough - Differential Diagnosis Algorithm
No Fever, No Tachypnea
 - Normal Chest Auscultation
Causes of Acute Pediatric ... Cough - Differential ... Diagnosis Algorithm ... Bronchitis - No URTI Symptoms ... #Causes #Peds #
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay - Differential ... Diagnosis Algorithm ... Syndromic • Genetic ... #Causes #Peds # ... Pediatrics
Epiglottitis - Swollen inflamed epiglottis 
Clinical (Rapid onset) 
 • Fever 
 • Sore throat
inflamed epiglottis Clinical ... Signs #Causes #Diagnosis ... #Differential # ... Peds #Pediatrics
Cor triatriatum
 • Epidemiology
 • Etiology
 • Associated Lesions
 • Differentials Diagnosis
 • Anatomy - Sinister,
Associated Lesions • Differentials ... Diagnosis • Anatomy ... Physiology • Clinical ... cardiology #summary #peds ... #pediatrics